Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Neuromuscular Disorders

Volumn 19, Issue 12, 2009, Pages 828-832

  Schara, U ^a   Barisic, N ^b   Deschauer, M ^c   Lindberg, C ^d   Straub, V ^e   Strigl Pill, N ^f   Wendt, M ^c   Abicht, A ^f   Muller J S ^e   Lochmuller H ^e  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b UNIVERSITY OF ZAGREB   (Croatia)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Congenital myasthenic syndrome; DOK7; Downstream of kinase 7; Ephedrine therapy; Synaptopathy

Indexed keywords

3,4 DIAMINOPYRIDINE; CYTOPLASM PROTEIN; DOWNSTREAM OF KINASE 7; EPHEDRINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BULBAR PARALYSIS; CLINICAL ARTICLE; CLINICAL TRIAL; COLD SENSATION; CONGENITAL MYASTHENIC SYNDROME; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG TOLERABILITY; EPISTAXIS; EUROPE; EXERCISE TOLERANCE; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; INFANTILE HYPOTONIA; LIMB WEAKNESS; MALE; MUSCLE ACTION POTENTIAL; MUSCLE CRAMP; MUSCLE STRENGTH; MUSCLE WEAKNESS; NERVOUSNESS; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; RESPIRATORY DISTRESS; SIDE EFFECT; SLEEP DISORDER; SWEATING; TACHYCARDIA; VITAL CAPACITY; XEROSTOMIA;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; EPHEDRINE; FACE; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE WEAKNESS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; SYMPATHOMIMETICS; TREATMENT OUTCOME;

EID: 70449526159     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.09.008     Document Type: Article

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